Linked Data
ClinVar Variation Id:
223024
ClinVar RCV Id:
RCV000208638
dbSNP Id:
rs1064792861
gnomAD v2:
22-50967642-C-T
gnomAD v4:
22-50529213-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50529213C>T , CM000684.2:g.50529213C>T | GRCh38 |
| NC_000022.10:g.50967642C>T , CM000684.1:g.50967642C>T | GRCh37 |
| NC_000022.9:g.49314508C>T | NCBI36 |
| NG_011860.1:g.5873G>A , LRG_727:g.5873G>A | |
| NG_016235.1:g.2227G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.340G>A MANE Select | ENSP00000252029.3:p.Asp114Asn | |
| ENST00000395680.6:c.340G>A | ENSP00000379037.1:p.Asp114Asn | |
| ENST00000395681.6:c.340G>A | ENSP00000379038.1:p.Asp114Asn | |
| ENST00000650719.1:c.340G>A | ENSP00000498276.1:p.Asp114Asn | |
| ENST00000651095.1:n.479G>A | ||
| ENST00000651196.1:c.340G>A | ENSP00000499096.1:p.Asp114Asn | |
| ENST00000651401.1:c.-1+691G>A | ENSP00000499115.1:n.-1+691G>A | |
| ENST00000651906.1:n.459G>A | ||
| ENST00000652237.1:n.616G>A | ||
| ENST00000652352.1:c.88G>A | ENSP00000498579.1:p.Asp30Asn | |
| ENST00000252029.7:c.340G>A | ENSP00000252029.3:p.Asp114Asn | |
| ENST00000395678.7:c.340G>A | ENSP00000379036.3:p.Asp114Asn | |
| ENST00000395680.5:c.340G>A | ENSP00000379037.1:p.Asp114Asn | |
| ENST00000395681.5:c.340G>A | ENSP00000379038.1:p.Asp114Asn | |
| ENST00000425169.1:c.340G>A | ENSP00000395875.1:p.Asp114Asn | |
| ENST00000476284.1:n.465G>A | ||
| ENST00000487162.1:n.628G>A | ||
| ENST00000487577.5:n.627G>A | ||
| NM_001113755.2:c.340G>A | NP_001107227.1:p.Asp114Asn | |
| NM_001113756.2:c.340G>A | NP_001107228.1:p.Asp114Asn | |
| NM_001257988.1:c.340G>A , LRG_727t1:c.340G>A | NP_001244917.1:p.Asp114Asn | |
| NM_001257989.1:c.340G>A , LRG_727t2:c.340G>A | NP_001244918.1:p.Asp114Asn | |
| NM_001953.4:c.340G>A | NP_001944.1:p.Asp114Asn | |
| NM_001113755.3:c.340G>A | NP_001107227.1:p.Asp114Asn | |
| NM_001113756.3:c.340G>A | NP_001107228.1:p.Asp114Asn | |
| NM_001953.5:c.340G>A MANE Select | NP_001944.1:p.Asp114Asn |